ClinVar Miner

List of variants studied for Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis

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ClinVar version:
Total variants: 83
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HGVS dbSNP
NC_000017.11:g.(?_3636418)_(3656815_?)del
NC_000017.11:g.(?_3636418)_(3658185_?)del
NC_000017.11:g.(?_3636418)_(3658195_?)del
NC_000017.11:g.(?_3647424)_(3648951_?)del
NC_000017.11:g.(?_3647434)_(3648941_?)del
NC_000017.11:g.(?_3647444)_(3658175_?)del
NC_000017.11:g.(?_3654988)_(3655362_?)del
NC_000017.11:g.(?_3657995)_(3660744_?)del
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg) rs121908127
NM_004937.3(CTNS):c.1029C>A (p.Ile343=)
NM_004937.3(CTNS):c.1035C>T (p.Phe345=) rs149007536
NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu) rs560868487
NM_004937.3(CTNS):c.108C>T (p.Asn36=) rs117404824
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu) rs144751390
NM_004937.3(CTNS):c.117G>A (p.Ser39=) rs765428193
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888
NM_004937.3(CTNS):c.139C>T (p.Arg47Trp)
NM_004937.3(CTNS):c.140+1G>T rs1567701415
NM_004937.3(CTNS):c.140+2T>C
NM_004937.3(CTNS):c.141-1G>A
NM_004937.3(CTNS):c.141-4A>C rs1437667230
NM_004937.3(CTNS):c.156A>G (p.Ala52=) rs1597623923
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.206_210del (p.Ile69fs) rs879758262
NM_004937.3(CTNS):c.220G>A (p.Asp74Asn) rs139364393
NM_004937.3(CTNS):c.285A>T (p.Gly95=) rs373998956
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter)
NM_004937.3(CTNS):c.300T>C (p.Tyr100=) rs376042415
NM_004937.3(CTNS):c.327C>T (p.Thr109=) rs150554216
NM_004937.3(CTNS):c.341G>A (p.Arg114His) rs559362332
NM_004937.3(CTNS):c.356G>A (p.Arg119His) rs375970075
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr) rs187396540
NM_004937.3(CTNS):c.368T>G (p.Ile123Ser) rs200313254
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter) rs550254092
NM_004937.3(CTNS):c.402C>G (p.Tyr134Ter)
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe) rs1436441738
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter) rs1597647930
NM_004937.3(CTNS):c.433C>T (p.Gln145Ter)
NM_004937.3(CTNS):c.461+10del rs377470989
NM_004937.3(CTNS):c.462-7C>A rs189632527
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206
NM_004937.3(CTNS):c.480C>T (p.Phe160=) rs147565118
NM_004937.3(CTNS):c.510C>T (p.Phe170=) rs747488464
NM_004937.3(CTNS):c.516C>T (p.Ala172=) rs143405190
NM_004937.3(CTNS):c.534C>T (p.Ile178=) rs113967200
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_004937.3(CTNS):c.561+4C>T rs111256750
NM_004937.3(CTNS):c.587dup (p.Asn196fs) rs1597654857
NM_004937.3(CTNS):c.588C>T (p.Asn196=) rs757955245
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207
NM_004937.3(CTNS):c.609C>T (p.Ser203=) rs200273011
NM_004937.3(CTNS):c.61+5G>A
NM_004937.3(CTNS):c.612C>T (p.Asn204=) rs200170842
NM_004937.3(CTNS):c.61_61+2del
NM_004937.3(CTNS):c.62-1G>A rs1597619719
NM_004937.3(CTNS):c.62-1G>T
NM_004937.3(CTNS):c.646dup (p.Thr216fs) rs893207601
NM_004937.3(CTNS):c.66A>C (p.Ser22=) rs748125070
NM_004937.3(CTNS):c.681+1G>A
NM_004937.3(CTNS):c.682-1G>T rs1057516771
NM_004937.3(CTNS):c.684C>T (p.Arg228=) rs762346133
NM_004937.3(CTNS):c.691C>T (p.Gln231Ter) rs1463026342
NM_004937.3(CTNS):c.695G>A (p.Arg232His) rs142641674
NM_004937.3(CTNS):c.751_754delinsCG (p.Thr251fs) rs1555564051
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004937.3(CTNS):c.790C>T (p.Gln264Ter)
NM_004937.3(CTNS):c.790_791del (p.Gln264fs)
NM_004937.3(CTNS):c.817A>G (p.Lys273Glu)
NM_004937.3(CTNS):c.822C>T (p.Leu274=) rs150773117
NM_004937.3(CTNS):c.829dup (p.Thr277fs) rs752919200
NM_004937.3(CTNS):c.833T>C (p.Leu278Pro) rs1314998853
NM_004937.3(CTNS):c.834G>A (p.Leu278=) rs139519275
NM_004937.3(CTNS):c.838A>C (p.Lys280Gln)
NM_004937.3(CTNS):c.841dup (p.Tyr281fs)
NM_004937.3(CTNS):c.852+8C>T rs780856527
NM_004937.3(CTNS):c.853-6G>T rs775425630
NM_004937.3(CTNS):c.897T>C (p.Ile299=) rs199824920
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg) rs746307931
NM_004937.3(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_004937.3(CTNS):c.969C>T (p.Asn323=) rs121908128
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn) rs140326392
NM_004937.3(CTNS):c.971-12G>A rs375952052

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